Details of Disease

General Information of Disease (ID: DIS4F710)

• Disease Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Synonyms: long-chain 3-OH acyl-CoA dehydrogenase deficiency; long-chain 3-hydroxy acyl CoA dehydrogenase deficiency; trifunctional protein deficiency type 1; 3-hydroxyacyl-CoA dehydrogenase long chain deficiency; long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHADD; HELLP syndrome, maternal, of pregnancy; fatty liver, acute, of pregnancy; LCHAD deficiency
• Definition: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DISA6JBV: Disorder of fatty acid oxidation and ketogenesis
  DISQ89HN: Familial hypertrophic cardiomyopathy
  DIS4F710: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012173
  MESH ID: C566945
  UMLS CUI: C3711645
  OMIM ID: 609016
  MedGen ID: 778253
  Orphanet ID: 5
  SNOMED CT ID: 726021008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EHHADH	OTBAAHL5	Strong	Biomarker	[1]
HADHA	OTO557N2	Definitive	Autosomal recessive	[2]

References

• [1] Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.Pediatr Res. 2000 Jan;47(1):43-5. doi: 10.1203/00006450-200001000-00010.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.